Aneurysm study looking for genetic link

Baptist Health Jacksonville is looking for siblings of brain aneurysm patients for a clinical study.


  • By Dan Macdonald
  • | 12:00 a.m. October 11, 2022
  • | 5 Free Articles Remaining!
Pam Jordan and Dr. Ricardo Hanel, co-medical director of the Baptist Stroke & Cerebrovascular Center. Jordan joined the Familial Brain Aneurysm Study in April. Her aneurysm was discovered in July and repaired in August.
Pam Jordan and Dr. Ricardo Hanel, co-medical director of the Baptist Stroke & Cerebrovascular Center. Jordan joined the Familial Brain Aneurysm Study in April. Her aneurysm was discovered in July and repaired in August.
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Baptist Health Jacksonville is researching how genetics and brain aneurysms are connected.

Pam Jordan is happy they are conducting the Familial Brain Aneurysm Study.

Had it not been for Dr. Ricardo Hanel, co-medical director of the Baptist Stroke & Cerebrovascular Center, discovering and repairing Jordan’s sister’s aneurysm, she never would have learned she had one herself. 

Jordan’s aneurysm was in the exact same place as her sister’s aneurysm.

Jordan, 61, is a fit, retired dental office manager with three children and eight granddaughters. She joined the study in April and her aneurysm was discovered in July. Hanel repaired it Aug. 15. 

She is the first study participant to have been found to have a brain aneurysm.

“I had a lot of faith in Dr. Hanel. I also have a strong faith in God. I felt if he has gotten me this far that he would see me through this. So I didn’t spend a lot of time worrying about it. I just did it,” Jordan said.

A brain aneurysm is a weak spot in a blood vessel in the brain. Blood can leak or break through the weak spot much like bursting a blister.

Left untreated, a brain aneurysm can rupture and cause a stroke, brain damage, coma or death. 

Hanel said if one bursts, 40% of the time the person dies and another 40% may become disabled. Short-term memory loss is a common result.

Research has found that if one’s mother, father or sibling has a brain aneurysm the likelihood that another member of the family could have one as well rises from a 4% chance, which is the chance everyone has, to 6% if one sibling has an aneurysm and to 8% if two family members are found to have them. 

If a patient is found to have fibromuscular dysplasia, the enlargement or narrowing of arteries, the chances of also having an aneurysm increase to 18%.

“That for me is the number one thing about the study, is to get people talking about it,” Hanel said.

Brain aneurysms can be detected by a magnetic resonance angiographic, called an MRA.

For now, it is a test that Hanel advocates becoming part of an annual physical.

“We are hoping that one day instead of doing an MRA, we could detect an aneurysm through a blood sample. If you have that gene, you would be found to be at a higher risk,” Hanel said.

“All kinds of problems could be prevented if it was just part of the questions the primary care physician asks on the paperwork.”

Often aneurysms have no symptoms. 

However, they do present themselves through symptoms like a drooping eyelid, dilated pupil, pain above or behind the eye, double vision and numbness or weakness on one side of the body, face, arms or legs.

Women are more susceptible to an aneurysm than men by a 3-1 margin. It is suspected there is an estrogen or osteoporosis connection, Hanel said.

The Familial Brain Aneurysm Study started in 2021 with a $250,000 grant from the Florida Legislature. The next year the grant doubled to $500,000. 

The funding was secured through the work of Olivia and Phil Hoblit, founders of the Trinity Love Hoblit Foundation for brain aneurysm awareness.

About 300 people have become part of the study. Hanel would like that to grow to 1,000.

To take part, a first-degree sibling must have had a brain aneurysm.

Blood samples are taken from both the aneurysm patient and the sibling. The sibling then is given an MRA. This is how Jordan’s 6-millimeter aneurysm was found.

She has helped enroll other family members in the study. Siblings need not live in the Jacksonville area to participate, Hanel said.

Those from out of town can make an appointment to join while in town for a visit.

“I look at this as a blessing. It could have gone a lot differently. I am one of the very fortunate ones,” Jordan said.

 

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